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|LETTER TO EDITOR
|Year : 2018 | Volume
| Issue : 4 | Page : 1159-1160
Magnetic resonance imaging neurography depicting radiological anticipation in a family with PMP22 duplication
Satish V Khadilkar1, Madhu Bala1, Sonali Shah2
1 Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India
2 Department of Radiodiagnosis, Bombay Hospital Institute of Medical Sciences, Mumbai, Maharashtra, India
|Date of Web Publication||18-Jul-2018|
Dr. Satish V Khadilkar
Department of Neurology, Bombay Hospital Institute of Medical Sciences, Mumbai - 400 020, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Khadilkar SV, Bala M, Shah S. Magnetic resonance imaging neurography depicting radiological anticipation in a family with PMP22 duplication. Neurol India 2018;66:1159-60
|How to cite this URL:|
Khadilkar SV, Bala M, Shah S. Magnetic resonance imaging neurography depicting radiological anticipation in a family with PMP22 duplication. Neurol India [serial online] 2018 [cited 2019 Mar 19];66:1159-60. Available from: http://www.neurologyindia.com/text.asp?2018/66/4/1159/236961
Charcot-Marie-Tooth disease More Details type 1A is an autosomal-dominant neuropathy secondary to 1.5 Mb tandem duplication in peripheral myelin protein 22 (PMP 22) gene on chromosome 17p11.2. While this mutation is not modified during inheritance, few families exhibit the clinical phenomenon of anticipation. The mechanism of anticipation according to one study is due to the triplication of gene. Radiological anticipation has not been reported as yet.
We describe clinical and radiological features of anticipation in a family having PMP 22 duplication. Three successive generations displayed distal sensorimotor areflexic neuropathy with pes cavus and thickened nerves. Progressively increasing clinical severity was very evident across generations with patients becoming symptomatic at the ages of 21, 48, and 75 years. Electrophysiological parameters correlated with the clinical severity in successive generations with conduction velocities <35 m/s in both mother and son but compound muscle action potential amplitude was severely attenuated in the son as compared to the mother.
Magnetic resonance imaging (MRI) neurography has been recently used to evaluate proximal nerve segments. In this family, MRI of the lumbosacral plexus suggested more severe thickening of nerve roots in the son [Figure 1]a and [Figure 1]b as compared to the mother [Figure 2]a and [Figure 2]b, a finding suggestive of radiological anticipation.
|Figure 1: (a and b) Images of son revealed more severe involvement of lumbosacral nerves, documenting radiological anticipation|
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|Figure 2: (a) Coronal short tau inversion recovery (STIR) and (b) coronal three-dimensional maximum intensity projection diffusion weighted whole body magnetic resonance imaging with background body signal suppression [3D MIP DWIPS] images of the mother revealed diffuse thickening and abnormal hyperintense signal involving the lumbosacral nerves (white thin arrow) with enlarged dorsal root ganglia (short white block arrow)|
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There are no conflicts of interest.
| » References|| |
Steiner I, Gotkine M, Steiner-Birmanns B, Biran I, Silverstein S, Abeliovich D, et al
. Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol 2008;255:813-9.
Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, et al
. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet 2014;94:462-9.
[Figure 1], [Figure 2]